Dystoniamatters! - The Dystonia Society

Dystoniamatters!
Issue 73
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Autumn 2011
Celebrating groups
Also in
this issue...
What’s new in
research page 17
Playing through the
pain barrier page 23
Paralympic champion page 21
Printing is supported by an
unrestricted grant from Ipsen Ltd
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Autumn 2011
New groups are
launched page 2
The Dystonia Society exists to
support people who have any
form of the neurological
movement disorder known
as dystonia, and their families,
through the promotion of
awareness, research and welfare.
THE DYSTONIA SOCIETY
Registered Charity No. 1062595
Scottish Registered Charity No. SC042127
Company limited by guarantee No. 3309777
Dystonia Society, 2nd floor
89 Albert Embankment
London SE1 7TP
Office: 0845 458 6211
Helpline: 0845 458 6322
Fax: 0845 458 6311
email helpline:
support@dystonia.org.uk
email other enquiries:
info@dystonia.org.uk
www.dystonia.org.uk
Newsletter published during March,
June, September and December.
We welcome new ideas for the
newsletter, please call the Editor
to discuss your ideas. Items
intended for publication should
be submitted to the Editor, eight
weeks before publication.
Cover shot: The Northern Ireland
launch party at Hilden Brewery.
ROYAL PATRON
HRH Princess Alexandra, KG, GCVO
PATRONS
Tom Beldon
Lord Macdonald of Tradeston, CBE
Derek Thompson
CHAIR
Fiona Ross, OBE
VICE CHAIRMAN
Roger Edmonds, FCA
TRUSTEES
Joanna Atkin
Shona Baxandall
Joy Bourne
Nirma Gill
Mike Newbigin, Honorary Treasurer
Penny Ritchie Calder, MBE
Alan Tamlyn
CHIEF EXECUTIVE
Paul King
Society news
Northern Ireland lift-off Many thanks
The trustees wish to
offer their thanks to
Maureen Sheehan,
who served as a trustee
from 2007 until March
2011. Maureen made
a valuable contribution
to the Board’s discussion
and also played an
important role as a
member of the Support
Services sub-committee.
She brought with her
many useful insights
into life with dystonia.
Her work for the Society
is much appreciated.
The Northern Ireland group had its launch
in June. Hilden Brewery, near Belfast, was
the venue for a lively BBQ...
From the smiles on the faces of everyone in
our cover photo, you can see that the evening
was a great success! Around a hundred people
came along including medical, nursing and
admin staff from Belfast City Hospital neurology
department. Not long after the DJ kicked off,
it was great to see inhibitions disappear with
so many on the dance floor! The group’s next
meetings are scheduled for September and
November – you can find details on page 34.
iiiiiiiiiiiiiiiiiiiiiii
Group birthday celebration
The Staffs and Shropshire group celebrated their
10th birthday with cake and wine. The group
has provided invaluable support both
to carers and those who have dystonia.
It’s a place for members to share their
problems and swap advice in a relaxed
atmosphere. Everyone is welcome!
iiiiiiiiiiiiiiiiii
MEDICAL ADVISOR
Dr Tom Warner, PhD, MRCP
FOUNDER
The late Joan Young
Dystoniamatters! DESIGN
Sarah Davies Design (01726) 834833
Dystoniamatters!
Northern Bleph
group launched...
The Northern Blepharospasm group
held a very successful first meeting
in Leeds in July. Members shared
coping strategies and discussed ideas for future
meetings whilst enjoying a ‘bring and share
lunch’. Their next meeting will be in November.
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For all group
meeting details,
see pages 32–34.
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Welcome to the
Autumn newsletter
Report and
Accounts
Summarised accounts are
provided on pages 27–30.
You can find a copy of the
full report and accounts
on our website, or obtain
a printed copy from the
UK office.
We are very grateful
to Ipsen Ltd for their
generosity in providing
a significant,
unrestricted grant to
support the newsletter.
When members completed our survey a
couple of years ago, 80% said they thought
research should be a top priority for the
Society. As a small organisation, there is a
limit to the amount of research we can fund
directly ourselves, so the trustees have been
looking at other ways we can contribute to
the global research effort on dystonia.
As a result, we have decided to join the
Dystonia Coalition – an international network
of organisations working together to tackle
dystonia. It aims to link clinicians to patients
enabling them to collect information (such
as genetic backgrounds) and identify
participants for possible developments –
such as drug trials or treatments. On pages
15–16, our Chair, Fiona Ross, explains how
it works and why we joined.
Being part of the Dystonia Coalition will
also enable us to keep members better
informed of the latest research developments.
The administrative centre for the Coalition
is the Dystonia Medical Research Foundation,
a US-based patient group. Their Executive
Director, Janet Hieshetter, has kindly written
an update for us of the latest developments
in solving the dystonia puzzle (pages 17–18).
Over the forthcoming issues of Dystonia
matters! we will continue to give you
updates as new information about research
becomes globally available.
Paul King Chief Executive
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Dystoniamatters!
Society update
Volunteers with DYT1 dystonia wanted
Hardev Pall, a Consultant in Neurology at
University Hospitals Birmingham, is presently
researching the involvement of dopamine
in DYT1 dystonia.
The research, which is funded by the Dystonia
Society, hopes to clarify whether antioxidants
are involved in the development of dystonia.
He needs to collect more blood samples and is
looking for volunteers with DYT1. Hardev’s team
are ready to travel anywhere in England and
Wales to collect the samples so there wouldn’t
be any need for you to travel. If you have DYT1
dystonia and are interested in volunteering,
please contact us on 0845 458 6211 and we’ll
put you in touch with Hardev’s team.
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Examples of medical
alert information
Alerts for medical emergencies
If you have had Deep Brain Stimulation (DBS) you will have been briefed
about how to avoid situations where the implanted equipment might be
switched off (eg. airport security devices). However, not every patient is
told that it is important to carry some form of medical alert information
at all times to avoid the risk of inappropriate or potentially dangerous
treatment following an accident. The best way to do this is to wear a
personalised dogtag, wristband, watch or other piece of jewellery
inscribed with the relevant details. The Medic Alert Foundation, a nonprofit-making charity, can provide such items to order. Membership costs
£25 a year and tags cost from £19.95. Emergency personnel are trained
to look for such tags and will contact MedicAlert to get details of your
DBS, current medication and hospital contacts.
A typical example of the inscription on a MedicAlert item for someone
with DBS reads: Dystonia. Implanted neurostimulator. MRI and diathermy
contra-indicated. The Medic Alert Foundation can be contacted on:
0800 581420 and their website address is: www.medicalert.org.uk
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Society update
Your Questions
New website
Q. What is gait-related neck
In September, we’ll be launching a new website...
As you can see from these example pages, it is livelier,
more friendly and better organised. It will also have
an improved forum and the professionals section
will incorporate our new Good Practice Guide.
Please use the forum to let us know what you think!
Reaching out to Wales
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Dan Morris speaking
at the event in Cardiff
A successful dystonia information event took
place in Cardiff in July attended by forty people.
The meeting was addressed by Huw Morris,
consultant neurologist, and Dan Morris,
consultant opthalmologist – both at the
University of Wales. They gave updates on
research and treatment of dystonia. Thanks very
much to both for being so generous with their
time. A lively discussion on services in Wales
followed led by Angie Brown from the Society.
A second event is planned for October and will
be held in North Wales – see website for details.
Congratulations to Dr Jean
-Pierre Lin and the Complex
Motor Disorders Service at
the Evelina Children’s
Hospital in London. They
have been awarded the
best team of the year by
the Well Child Foundation.
They’ve made a dramatic
difference to many people
with dystonia and the
award is so well deserved.
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Living with Dystonia Day
Seventy people attended a Living with
Dystonia Day in Plymouth which was
great success. The event was addressed
by consultant neurologist Timothy
Harrower and physiotherapist Helen
Wilkinson. Both gave excellent talks
and included some surprising facts –
apparently some people use botulinum
toxin to stop their dog’s tail wagging!
Complementary therapy sessions were
kindly provided in the afternoon by local
therapists. Thanks very much to them.
Dystoniamatters!
dystonia and is it common?
l Most people have neck dystonia
at rest as well as when moving
but sometimes neck dystonia only
happens when a person walks. This
is gait-related neck dystonia and it is
a form of action dystonia. It happens
because in order to maintain posture
and position of head in movement,
they have to use more neck
muscles. It is not common.
Q. Are there any statistics on the
effectiveness of botulinum toxin
in treating neck dystonia?
l Studies suggest moderate
to excellent response in about
80–85% of people treated.
Q. What is essential tremor
and what is the difference
between it and dystonic tremor?
l Essential tremor is one of the
most common movement disorders:
l The tremor is generally rhythmic
and can vary from being subtle to
very severe and debilitating.
l It usually only affects the hands,
arms and sometimes head and voice.
l The tremor is not present when
someone is at rest. It happens when
a body part assumes a posture or
undertakes a specific action.
The differences between essential
tremor and dystonic tremor are:
l The dystonic tremor usually
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& Answers...
happens also at rest l Dystonic
tremor usually happens together
with dystonic body postures.
l Dystonic tremor movements
are less rhythmic and more irregular
than essential tremor. l Occurrence
of dystonic tremor is also more
irregular than essential tremor.
Q. I have been diagnosed with
neck dystonia and my job involves
me sitting at a computer. Does
my employer have the right to
say I am no longer able to do the
job for which I was employed?
l Dystonia is classed as a chronic,
long-term condition under the
Equality Act 2010. Under this Act,
an employer has a duty to make
reasonable changes for disabled
applicants and employees. Known
as ‘reasonable adjustments’ they
are designed to avoid you being
put at a disadvantage compared
to non-disabled people. They can
apply to working arrangements
or to any physical aspects of the
workplace, ie. by adjusting your
working hours or providing you
with adapted equipment. Physical
adjustments can include replacing
steps with a ramp. An employer
cannot select you for redundancy
just because you are disabled.
See the website www.direct.
gov.uk for more information.
HELPLINE 0845 458 6322
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Grand Draw
December 2011
Fundraising Preview
As in previous years we will be holding a Grand
Draw. Tickets will be sent out from September.
The prizes are: 1st £1,000, 2nd £500, 3rd £250
We still have some Brighton and London
Marathon places up for grabs...
Marathons in 2012
Last year the raffle generated £14,800 for the
Society which was a significant boost to the coffers.
Hopefully the prospect of being a winner of a small
windfall amount, at an expensive time of year will encourage the sales. The
extra income raised by the sales will be of immense benefit to the Society.
Thank you for your support once again, and GOOD LUCK! Please let us
know if you haven’t received your tickets by the first week in October.
l
Picking out the
winning ticket...
H
H Luxury Weekend Break – up for grabs!
Weekends available, commencing: 11 November,
18 November, 25 November and 2 December 2011
H
H
This beautiful cottage is set in a secluded riverside creek
in the village of Tuckenhay, just inland from the sea across
rolling hills. Deep in the South Devon countryside, the
cottage is part of a complex with award-winning indoor
swimming pools plus steam rooms, saunas and jacuzzis.
There are many beautiful local walks, badminton and
tennis courts and two excellent pubs in the village.
All of this and more is available at Tuckenhay Mill.
Don’t miss your chance, place your bid today!
Tuckenhay Mill Silent Auction form
I would like to bid:
(amount)
Name:
Address:
Date: (preferred)
7
£
The Dystonia Society has been
donated this wonderful prize
to use for a silent auction. If
you would like an opportunity
to bid for this weekend
break, which has a value
of £300, please send us
the form. Alternatively,
please email your bid to:
info@dystonia.org.uk
Dystoniamatters!
Would you or someone you know be able to take
part in one of these exciting events? The Brighton
Marathon is taking place on Sunday 15 April and
the popular London Marathon is on Sunday 22nd
April 2012. We have just one place remaining
for the London Marathon and, as I am sure you
know, these places come at a very high premium
to charities, therefore the runners
are required to generate
a large amount of funding
and sponsorship. Please
contact the Society if you
know someone who would
like to take part.
l
Right: Stephen Lawrence
who raised £5,000 for the
Dystonia Society in 2011.
l
Above: Debbie
Belcher ran the 2011
event. She is also
running for the
Society in 2012.
Wedding bells for Joanne
Congratulations to Jo Noble and her husband,
Mick Brown, who got married in August. Jo’s
dystonia started when she was 10 and she spent
her teens wondering what was wrong with her
as her doctor had told her it wasn’t a medical
condition. She was finally diagnosed aged 21
and, a few years later, had successful Deep Brain
Stimulation. Pictured here on their happy day,
we wish them all the best in their married life.
For more information on any fundraising event, please contact
Ann Dedman: 0845 803 1004 or email: ann@dystonia.org.uk
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l Paula
H
at the summit
Munro Magic
Paula Nugent raised
over £1,800 by climbing
the Beinne Ime. She
was accompanied by
husband Colin and
friends Paul McGowan
and Elle Crawford
who raised a further
£250. Paula, who has
dystonia, wanted to
raise money for the
Society to help others
with the condition.
‘We did it!’ she said
upon completion.
‘The sun came out
for 10 seconds, then
it rained, then the wind
nearly blew us off the
munro and the hail
stones stung, but we
made it and I loved it!’
Fundraising news
Fundraising news
Cardiff to China
Chris’s triumphant run
Musician Jayne Thomas organised concerts
throughout the year in her home town of
Cardiff to raise funds and awareness for
dystonia. This led up to a challenge of a
lifetime, walking the Great Wall of China.
Chris Rathbone, right, took part in the
Great Manchester Run raising £1,438.
His fantastic efforts were also recognised
by his employer, JLT Services Ltd, who
kindly match-funded his sponsorship.
Jayne presented a cheque to CEO Paul King at
the Dystonia Information Day in Cardiff on the
9 July. She raised an amazing total of £5,000
and would like to thank the Gwmbach Male
Voice Choir for their wonderful support, as well
as her many generous sponsors.
Chris clocked up 46.34 minutes, bettering last
year’s time by nearly 2 minutes! 38,000 people
took part and he finished the race in the first
3000 – quite an achievement! We are very
grateful to Chris and JLT Services Ltd
for all their wonderful support.
H
H
The Society is extremely
grateful to Rob Foster
who took part in the
Thames Swim organised
by British Gas, raising
a fantastic £630!
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Mike’s Marathon
l In
Cardiff & China
Lejog and the Three Peaks
Rob Wiffen combined the
challenge of cycling Lands
End to John o’Groats with
the Three Peaks which was
quite remarkable. Equally
remarkable was his sponsorship amount of £2,530! Rob’s
younger brother was diagnosed with dystonia
so he was very much the driving force for this
great achievement. Thanks for your support!
Dystoniamatters!
H
H
l Below, Eleanor at
Africa’s highest point...
H
Eleanor’s expedition
Eleanor Chadwick took part in a rather
challenging expedition last April. She
climbed Mt. Kilimanjaro and managed
to raise £580 in the process. Eleanor
said: ‘I took up the challenge to climb
Mt. Kilimanjaro with a group of friends
and we chose the Marangu Route which
is 5 days up and down. The first 2 days
are relatively relaxed but then the hard work
starts. The final ascent is done through the
night so you reach the top early in the morning.
Despite suffering from altitude sickness and
exhaustion the whole group was successful
in making it to the top which is 5895 metres
above sea level. Then for the easy bit or so
we thought, going down!’
If you want more details on how to take part
in this or any other overseas challenge, please
email Ann Dedman at: ann@dystonia.org.uk
or call her on 0845 8031004.
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Peak success
Stephen Wood and
Mansell London
Special Products Team
took part in the ‘Three
Peaks Challenge’ and
raised over £1,300
for the Society. Great
team work, a great
achievement and
great sponsorship.
Thank you very much!
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DATE FOR THE DIARY...
Next year’s Bike Ride and
Walk is on Saturday 12 May.
Everyone is welcome to join
in or to come
along and lend
their support.
It will be a very
enjoyable day
for certain!
l
A great cycle route
Coffee for coffers
On 16 July Liz and Nigel
Calder organised a Coffee
Stop event at St Paul’s
Methodist Church in
Northgate in order to raise
awareness and vital funds
for dystonia. A total of £386
was raised. Liz and Nigel are
very proud of their grandson,
Nicholas, who was diagnosed
with dystonia at 7 years old.
Nicholas had successful DBS
in 2007 when he was 16
and he is now a student at
Westminster University.
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Fundraising news
Young Fundraisers
New Forest views
Magic and jokes...
Judging by all the feedback, the New
Forest Bike Ride was a great success and
nearly everyone said that they would be
interested in doing it again next year!
Poppy & Daisy Calder wanted to do their
bit to raise funds at the Coffee Stop
event hosted by Liz & Nigel Calder.
This year’s event took place in an area of
outstanding natural beauty, fantastic for
both walking and cycling. The Bike Ride and
Walk raised nearly £5,000 – a great result!
Some feedback from participants:
‘The walk was very enjoyable
as the scenery and wildlife
were varied and beautiful. As
we walked through the trees
we saw many deer, horses,
birds and insects. Walking in
a group meant that we could
share the experience together
and I took lots of photos.’ Bernie McMahon
‘We had a great time on the cycle ride, it
was a lovely route through the beautiful
countryside, and the weather was just right.’
Penny Ritchie Calder
Win-dermere
I
Through generous
sponsorship, Ruth
Chesmore raised a
wonderful £1,300 by taking part in a 2 mile
swim across the beautiful but very chilly
Lake Windermere. Her reward afterwards
was a photoshoot with the swimming
legend, Duncan Goodhew, her proud mum
Maureen and sister Rebecca, shown above.
Dystoniamatters!
H
During a very busy morning, Poppy told
jokes whilst Daisy performed magic tricks to
earn money. Between them, these budding
fundraisers raised £20 for the Society.
This is a
great effort,
and we’d
like to say
thank you
very much!
H
H
l Ready
to
entertain
Innovative fundraising
Vicki Bell who lives in Dorset, has dystonia
and is a wheelchair user. She organised a
‘fundraising and raising awareness’ day at her
college with her friend Kayleigh Noyce, during
which time mobility aids and communication
aids were swapped around. Vicki explained:
‘Everyone felt their eyes had been opened by
the experience and that they had all had
learnt something new throughout the day.’
Thank you Vicki and your colleagues for
raising £100 for the Society and, of course,
a lot of awareness of dystonia and the many
conditions that your fellow students have
to deal with on a day-to-day basis.
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HELPLINE 0845 458 6322
l Above,
Kimberley
delighted to support
Documentary
decision..
Kimberley Heavey
was so moved when
she watched a
documentary about
dystonia that she
arranged a 20 mile
walk to raise funds
and roped her dad
into it as well.
Kimberley said, ‘Even
though it rained and
we got lost we really
enjoyed it!’ Thank
you Kimberley for
raising a fantastic
£114 for the Society.
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The Neurological Alliance
Campaign for better services
Arlene Wilkie, pictured left, is the new
Chief Executive of the Neurological Alliance.
Here she explains the work they do and its
relevance to people with dystonia. It is
important that neurological charities and
their members join together to influence
the way neurological services are delivered.
About the Neurological Alliance
The Neurological Alliance brings together neurological not-for-profit
patient organisations from across England to enable them to speak with
a common voice. Our aim is to ensure that everyone with a neurological
condition gets access to high-quality, joined-up services and good
information from their first symptoms, throughout their lives.
Approximately 10 million people in the UK have a neurological
condition, but awareness and understanding of neurology among
healthcare professionals and politicians is not what it should be. Only
if everyone with an interest in neurology joins together, both locally
and nationally, can we address this.
The Neurological Alliance has over seventy members, varying from
large national organisations, such as Parkinson’s UK, to smaller,
community based, volunteer-led groups, known as Regional Neurological
Alliances. We work with our members to challenge the NHS to address
unmet needs, to increase understanding of neurology and to enable the
voices of those affected by a neurological condition to be heard.
How the Alliance can work effectively with the Dystonia Society
Obviously, the range and diversity of organisations and conditions we
work with is immense. So how do we manage to represent them all?
Well, it’s not easy but the good news is that, in many areas, it is easier
than you might imagine. This is because so many issues are common
across numerous neurological conditions. Take for instance some of the
concerns that the Dystonia Society have raised with me about dystonia:
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Dystoniamatters!
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Lack of awareness leading to misdiagnosis and incorrect referrals
l
Postcode lotteries on availability of treatment
l
l
Lack of expertise about dystonia among local healthcare
commissioners putting treatment funding at risk
Threat to specialist dystonia nurses due to funding cuts
All have been raised by numerous other charities as well. We can pull
your common concerns together to put simple, compelling arguments
about these issues to the people who have the power to change things.
To give you an example, I recently arranged for twenty Chief Executives
of neurological charities to meet with health ministers to express their
concerns about the new NHS health bill. As a group, we found it easy
to agree what points to emphasise as everyone was worried about the
same things. As a result, the government have agreed to involve us in the
implementation of the new bill.
It is vital that members of the Society are active within the Neurological Alliance. You can provide intelligence on what is going on and
the examples that make our arguments compelling. For instance, I
frequently use hand dystonia as an example when talking to politicians
about the impact neurological conditions can have on the ability to work.
I understand that the work we do can seem sometimes far removed from
day-to-day treatment. But my experience of working in breast cancer has
shown that ongoing campaigning, advocacy and lobbying by patient
organisations ultimately makes a massive difference to the frontline
services patients receive.
How can you be involved?
What applies at a national level is important at a local level too. We support
a network of Regional Neurological Alliances. These bring together everyone affected by a neurological condition in order to campaign for improved
services in their area. They meet local commissioners and healthcare
providers to provide feedback on services and influence their delivery.
If any member wants to join a Regional Neurological Alliance or wishes
to start one in their local area, please contact the Neurological Alliance’s
Regional Development Officer, Lynda Poole on: 01484 842 745 or email
her at: lynda.poole@neural.org.uk
More information is available on the website: www.neural.org.uk
or alternatively, please call the Society on 0845 458 6211 for details.
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Dystonia Coalition
Collaborating for a cure
It was in America in 2009 that the Dystonia Coalition was formed.
Headed by the distinguished neurologist, Professor H. A. Jinnah
– known as ‘Buz’ – from Emory University School of Medicine in
Atlanta, he set about bringing together all the various doctors,
scientists and researchers who were working in the field to share
knowledge, not just in the U.S. but world wide. With a grant of
$6.5million from the U.S. Government – the National Institute
of Health – the collaboration and exchange of ideas began.
But it isn’t just a ‘talking shop’ for experts, a key part of this coalition
is to include patient groups. The idea behind this is simple. As new
treatments emerge, the clinicians need access to patients and so this is
aimed at preparing the ‘dystonia community’ for possible developments
– drug trials or treatments – in the future.
The first patient group to sign up was DMRF – the Dystonia Medical
Research Foundation – based in Chicago. Indeed it acts as the
administrative centre for the Coalition. DMRF is a charity, which raises
about $3million a year through private donations, and then awards
grants to researchers who are working in the field of dystonia.
Other patient groups followed, including the European Dystonia
Federation, and then in February this year I was visiting friends in San
Francisco and took a detour to Phoenix, Arizona, to attend a DMRF
conference where they were awarding $1million in research grants. A
rigorous process which involved nearly 30 scientists thoroughly reviewing
research proposals – discussing the merits of each idea, evaluating the
budget and the potential return on the investment.
Many of the key figures in the Coalition were in attendance and I
took the opportunity to discuss the possibility of the UK Dystonia Society
being part of this exciting new development. To say I was welcomed
with open arms would be an understatement! I had lengthy discussions
with Janet Hieshetter, the Executive Director of DMRF, and Professor Buz
Jinnah, and as a result, the UK Dystonia Society is now a member of the
Dystonia Coalition.
15
Dystoniamatters!
Their first objective is to create what is effectively a resource centre for
researchers. Clinical data from patients suffering various types of dystonia,
including blood samples, DNA, and even videos, will be stored centrally.
These can then be used by scientists anywhere in the world, who are part
of the Coalition, to further their research.
Such information is held under strict guidelines to comply with data
protection and privacy laws in Europe and in the U.S. Applications to use
the data will have to be authorised and one very obvious advantage of
this process is that if two different researchers appear to be investigating
something similar, they will be encouraged to collaborate.
Essentially it’s about communication – talking to each other. The
chances of developing new treatments, improving diagnosis, or even
finding a cure are clearly much higher if everyone works together.
The issues facing dystonia sufferers don’t change with geography. As
you all know, one of the biggest problems facing patients in the UK is
the length of time it can take to be properly diagnosed. Two years is the
average, which means that for many people it’s considerably longer than
that. According to Prof Jinnah, in the U.S. it’s even worse! He didn’t have
any figures but reckoned that in some places it could be double that.
So we’re now part of this collaboration. It may take time before
anything concrete happens, but I have no doubt that this is the right
direction for us.
Many of these clinicians and researchers will be in Barcelona in
October for a symposium organised by the Dystonia Coalition and the
European Dystonia Federation. Paul and I will both be there and while
I’m not sure I’ll be able to navigate my way through the technical
language, it’s more important for the doctors to exchange ideas and
talk to each other!
Who knows – maybe with collaboration, we really can find a cure.
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Research update
Putting the puzzle together
The world of dystonia is constantly evolving. Janet Hieshetter,
Executive Director of the Dystonia Medical Research Foundation,
summarises some of the latest developments. She argues that
patient groups have a vital role in supporting this process.
Dystonia is a busy field these days and there are many different groups
of people working to solve this puzzling disorder. Scientists in their
labs are performing experiments in an attempt to better understand
the mechanisms of this disorder. Neurologists in the clinic are striving
to formulate the best treatment strategies for their patients. Pharmaceutical companies are attempting to develop new drugs that specifically
target dystonia.
What is new and exciting?
With all of these different groups at work, what progress is being made
in putting the dystonia puzzle together? What is new, exciting? Where
are we heading?
Advances in genetic technology have sparked new explorations into
the general mechanisms of dystonia. These studies have uncovered new
mutations that reveal previously unknown connections between different
forms of dystonia. As we speak, attempts are being made to understand
these complex dystonia genetics with the hope of finding associated
genes and potential targets for drug discovery and development.
Research in other areas of neurology and neuroscience are also
providing new insight. For example, neurophysiological studies have
helped shed light on the role of a specific type of neuron in the brain.
Work is underway to target these neurons in an attempt to modulate their
receptors with the hopes of designing a new generation of medications
that have very few side effects – something that many dystonia-affected
persons experience with their current treatment regimen.
There is great hope that dystonia can be helped by interventions
which correct malfunctioning neural circuits in the brain. One such
17
Dystoniamatters!
intervention, deep brain stimulation (DBS), works
to restore ‘normal’ function of these neural circuits.
While many patients have had astonishing success
with DBS, there is still much to learn about how
and why it works. Refining our knowledge about
DBS and about the areas of the brain that control
movement will help provide a frame work for
future translational research.
What is the role of patient groups?
l
Janet Hieshetter
In addition to the scientists and clinicians who are working on their
own puzzle pieces, patient advocacy groups also have their pieces to
contribute. To complete the puzzle it is critical that we unite in our
efforts whenever possible. Why? Since dystonia is a rare disorder that
receives little attention there is strength in numbers. By collaborating
effectively and working in partnership with one another, we can truly
speak with one voice. Co-operation and promoting the effective
exchange of information is essential. Joint initiatives are also crucial to
organise productive meetings to provide researchers with forums to
present novel discoveries, exchange ideas, and set up collaborations.
We are thrilled to have the opportunity to work with the Dystonia
Society as co-sponsors of the upcoming 5th International Dystonia
Symposium (20–22 October, 2011) in Barcelona, Spain. This scientific
meeting offers a comprehensive platform to highlight cutting-edge
experimental and clinical research on dystonia, promote discussion
and exchange of ideas for new research directions, as well as a unique
opportunity to create new collaborations and strengthen existing ones.
Additionally, we look forward to participating in the planned Global
Patient Advocacy Group Meeting – providing the perfect opportunity
to strengthen our worldwide relationships.
Solving the dystonia puzzle requires the expertise and dedication
of many different groups of people. Only by working together we can
find a cure for dystonia.
Issue 73
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Alec Sandison
Brain donation
Having carried a donor card for many
years, offering body parts that anybody
might find useful after my death, it only
occurred to me recently that, because
I have dystonia, my brain might be
l Alec Sandison
particularly interesting to people
researching what caused my neck dystonia, ‘no-no’ tremor and
voice dystonia. So I contacted the National Hospital for Neurology
& Neurosurgery to see if they’d want a second-hand brain.
I explained that they couldn’t have it till I died in case I needed it before
then but this didn’t faze them and, almost by return, I got a reply from
the Brain Bank at the Institute of Neurology who sent me a whole bunch
of information and a donor registration form. They also made the point
– obvious really but I hadn’t thought about it – that they’re also
interested in receiving brains from people without a neurological disease
so I’ve been badgering my nearest and dearest to donate their ‘normal’
brains, especially my two sons who may or may not have some sort of
genetic predisposition to dystonia themselves.
The Brain Bank (in full, the Queen Square Brain Bank for Neurological
Disorders) is a unique collection of brains and, sometimes, the spinal cord,
which is used to study the effects of disease and to support research into
various disorders, including dystonia. The Brain Bank is secured in a locked
facility where only certain staff have access and all tissue is coded so as
to ensure the confidentiality of the donor.
You must be over 18 and resident in the UK to become a donor.
You must also, of course, discuss your wishes with your family and the
Declaration of Intent to Donate form must be witnessed by your next
of kin. Once the Brain Bank has received this form, they issue a donor
card which should be carried with you at all times. You will also be asked
to complete a self-assessment form about your health and lifestyle and
19
Dystoniamatters!
those of us with neurological disorders are asked
to complete a similar form once a year thereafter.
The identity of potential donors and all information
collected about them remain strictly confidential.
On the death of a donor, the Brain Bank should
be contacted as soon as possible and the next of
kin has to sign a consent form. The funeral director
will liaise with the local hospital to arrange for
the brain’s removal and transfer to the Brain Bank
but the procedure does not lead to any facial
disfigurement so it does not prevent open casket
services or other similar ceremonies, or the viewing
of the body by relatives. And, of course, you can
withdraw from the scheme at any time if you
change your mind.
Signing up as a potential donor obviously
doesn’t benefit us at all but wouldn’t it be nice
to think that we could contribute to research that
found a way of curing or preventing dystonia, or
at least improving palliative treatments for future
sufferers? Mind you, this might mean I could
no longer refer casually to my quarterly botox
injections. I love dropping this into conversations;
people look at me searchingly and you can see
them wonder where on earth the botox goes
since it clearly doesn’t go into my face!
If you wish to register on the Brain Donor
Scheme, please contact the administrator,
Susan Stoneham, on 020 7837 8370.
You can find more information on the Brain
Bank at: http://www.ucl.ac.uk/ion/departments
/molecular/themes/neurodegeneration
/brainbank/donors
Issue 73
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HELPLINE 0845 458 6322
Donations
in memory
We offer our sincere
condolences and
grateful thanks for
the many donations
received in memory
of loved ones:
[
[
[
[
[
[
[
[
[
[
[
Allan Monnox
David Edward
Bundy
Elizabeth Eden
Lowis
Hilary Welch
Janice Margaret
Shingler
Jessie Smith
Marjorie Rushton
Rita Ivy Mary
Elston
Sandra Southen
Sister Pauline
Thomas Peter
Wimhurst
20
My Story
Paralympic Champion
The first symptoms of Anne Dunham’s
dystonia appeared in 1978. She didn’t
get a correct diagnosis until more than
30 years later. Unfortunately, such
l Anne riding Teddy Edward
experiences are quite common among
our members. What is more unusual about Anne is that she won
5 Paralympic gold medals during this period and was awarded an
MBE after the Paralympics in 2008! In total she has won 14 gold
medals at international events. Here’s her story:
My symptoms started when I was in my twenties more than thirty years
ago. They started with a dropped foot and the muscle spasms have since
progressed to my leg, shoulder, right arm, hands, face and jaw. At the
time, I received a diagnosis of multiple sclerosis.
It was only last year, when I was admitted to hospital, that a new
consultant looked at my foot and said he thought it was dystonia. As a
result, they did a spinal tap and realised the tests for multiple sclerosis
were negative. Two consultants have now confirmed the diagnosis of
dystonia although they haven’t yet confirmed the type. Although I’d
been involved in disabled organisations for many years, I hadn’t heard
of dystonia until I got the diagnosis.
Until my symptoms started in 1978, I had ridden horses all my life. I
started with the Horse Rangers and then worked for my rides by helping
out at stables and being an instructor in my spare time. For a 5 year
period after the dystonia appeared, I couldn’t ride. My leg was pushing
up and affecting my balance. Eventually, using muscle relaxants, I was
able to ride side-saddle and even start hunting. After a further 3 years, I
was able to ride astride the horse again.
In my early forties, my husband retired and we bought a smallholding
in Wales. We kept horses and set it up as a riding holiday centre. I also
worked for the Riding for the Disabled Association as an instructor.
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Dystoniamatters!
Riding has always been helpful for my dystonia. The motion of the
horse relaxes me as it moves the muscles without my having to move
them myself. This reduces the spasms.
I’d always wanted to compete. My discipline is dressage. To compete
at the top levels, I spent all my life savings. I can’t afford to buy top-class
horses so I rely on the goodwill of owners to lend them to me. I’ve lost
count of the number of different horses I’ve competed with. To maintain
a competitive level, I need to ride around 10 hours per week. I couldn’t
have done it without my daughter who helps me with the horses and
even gave up her holidays to come to events with me. Financially, it has
become easier as we now get some lottery funding through World Class.
I started competing in 1988 and made it into the international squad
in 1991. My first international competition was the World Championships
in 1994. Since then I’ve represented Britain in four Paralympic Games
and our team has won Gold in all four. I’m determined to represent
Britain at a fifth Paralympic Games in London. The highlight of my career
was winning an individual gold medal at the Beijing Paralympics on a
horse I’d trained myself.
The atmosphere at the Paralympics is brilliant. It is very competitive
but also great to meet people with disabilities from all over the world.
It is amazing how people from some of the poorer countries cope. One
person who sticks in my mind was a swimmer whose leg was fixed at a
right angle. He just used a single stick to get around.
In addition to my dystonia, I have also had a quintuple heart by-pass
operation a few years ago. I’d dragged myself up five flights of stairs
onto the Great Wall of China and, then a few weeks later, I was at an
event and suddenly felt this incredible pain in my chest. As it was in
public, I had to do something it about and the doctor quickly diagnosed
a serious heart condition. I’m quite stubborn and probably wouldn’t
have bothered if I’d been at home. That meant I couldn’t compete for
18 months. In one respect the timing was fortunate – as I had enough
time to get back up to competition standard so I didn’t miss a
Paralympic Games!
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My story
Playing through the pain barrier
When Bran Koseda was twelve her mum noticed her back ‘looked
like a washboard’. This was the first sign of a dystonia that took
more than 15 years to treat effectively. Despite this, Bran was
determined to build a professional music career and played
through her pain to achieve it. Here’s her story:
The first symptoms of my dystonia appeared when I was 12. My Mum
said that my back looked like a washboard. The muscles were so tense
that there was no give in them at all. I developed a strange bouncy walk
with my shoulders gravitating upwards. As a 12 year old into heavy
metal and wearing doc martens, this used to cause me problems as
people thought it was a bravado act and that I was looking for trouble.
I was taken to doctors but my symptoms were dismissed as psychological and I was referred to a psychiatrist. When I was in my mid-teens,
I had an attack of serious spasms – my head was trying to twist down
my back. By the time, I got to the doctors my body was arched like a
crescent moon. People were staring at me and looking scared. However,
they still didn’t diagnose the problem. Over the years, they suggested
many different causes for my symptoms including a bad reaction to
my tattoos!
Despite my dystonia, all the way through my teens I was playing
music. I loved the bass and started playing the guitar: heavy metal,
rock, jazz. Just playing. My wildest impossible dream was to play guitar
live. But when I was 22, I went to see a rheumatologist who told me
I’d never play the guitar again.
However, I persisted. I worked with a specialist guitar teacher who
taught me to hold the plectrum in a way to cause the minimum amount
of strain on my muscles. Playing the guitar was like riding through the
pain barrier. After a couple of hours, I would be in agony. It was worth
it as I achieved my goal of becoming a professional musician and
touring Europe.
When I was 27, a new locum came to my GP practice. She referred
me to a neurologist and I finally received a diagnosis of dystonia. By
this time, the diagnosis wasn’t a surprise as I’d learned about dystonia
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Dystoniamatters!
a few years before but I hadn’t wanted to
admit to myself that this was what I had.
But it was a grim hour when I first saw
the diagnosis written down. The seizure
-like attacks continued and none of the
treatments made much difference.
I was in agony. Finally I told my psychiatrist
I couldn’t cope any more. She specialised
in hard-to-diagnose cases and talked to
some neurologists. As a result, she decided
to take on my case. After trying some other
l Celebrating the solstice
medications, she finally prescribed levodopa.
At first, I didn’t notice anything major – but then I noticed that the
muscles in my back were no longer locked in place. Things improved
and it felt like someone had put my brain back in my head. The mental
relief was unbelievable. When I met my doctor the next week, we
grinned at each other saying ‘Oh wow, it’s worked!’.
It’s not a complete cure – I still experience pain. For my music, I’ve
had to switch from playing the guitar to singing. For years, I tried
to hide my symptoms but now I talk openly about my dystonia. In
September I’m playing at Alchemy Festival. I hope my story will help
others. If anyone has to listen to the doom and gloom of being told
they can’t do things. Anyone can achieve what they want – they just
have to keep plugging away.”
Editor’s note
Bran was ultimately fortunate in that her dystonia proved highly
responsive to levodopa. This does happen in some rare cases
– usually when the dystonia has started in childhood. However,
unfortunately, most dystonias don’t respond in this way.
Issue 73
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Chair of Trustees
Annual Report
The appointment of our new Chief Executive,
Paul King has been the main event this year.
He arrived in January, bursting with ideas!
He inspired our new website which will be up and
running in the next few weeks, and also tripled
the number of ‘hits’ on our site by the use of
Google Adwords. This means simply that people
l Fiona Ross, OBE
who want to know more about dystonia can get
to us more quickly. The internet is now a vital form of communication
for charities and we are embracing this with a lively online forum, and
through facebook and twitter. Do get involved. Spread the word and
share your experiences – they could help someone else.
More Living with Dystonia Days
Many dystonia sufferers express a feeling of isolation and the helpline,
online forums, and group meetings, should go some way to alleviate
that. The annual conference was another vehicle for meeting other
sufferers, but it was limited to those who could travel to London. That’s
why we’ve abandoned it and replaced it with Living with Dystonia Days
around the country. This means we can involve more people. There have
been four this year, in Plymouth, Cardiff, Perth and Milton Keynes. The
plan is to try and stage at least six of these every year. So look out for
an event near you!
Reaching and educating doctors
We’ve also managed to reach 3500 medical professionals who’ve accessed
our online learning module through the BMJ – the British Medical Journal.
This is good news – the more people who know about dystonia the
better. One of the most frequent complaints is that many doctors have
never heard of dystonia, and have no idea how to treat it. We’ve tried to
address this, producing a Guide to Good Practice for medical professionals.
25
Dystoniamatters!
Treatment and research
In the past year an increasing number of members have contacted us
about access to treatment. In some areas, health authorities were
refusing to sanction the use of DBS – Deep Brain Stimulation – for
dystonia. The Society successfully fought this decision in the South West
but this issue has not gone away. There are problems elsewhere and we
will continue to argue the case.
Top of every patient’s ‘wish list’ is a cure. Sadly, we’re not there yet,
but by joining the Dystonia Coalition, and collaborating with the
American organisation, the Dystonia Medical Research Foundation,
we’re at least moving in the right direction. This also puts us in the
forefront when it comes to testing new treatments and therapies. The
Oxford blepharospasm trial is now completed, and we’re awaiting the
results any day now.
We need your support
The economic climate is hitting everyone. Open any newspaper, and it’s
a daily diet of job losses, wage freezes, and funding cuts – in the private
and public sectors. It hits charities too, and we are no exception. Our
income has dropped as various funders and donors suffer their own
financial constraints. The Society needs your support as never before.
There are more cuts in the pipeline, not to mention reorganisation of
the NHS, and the Society needs the resources to fight for dystonia
patients, their families and carers, to ensure everyone gets the right
treatment and support.
This will be the last chairman’s report you’ll receive from me. I stand
down next March having been Chair since 2008 and on the board for
ten years. There have been huge changes in that time in all aspects of
our work from the benefit system to new drug and surgical treatments,
but one thing never changes, and that’s the enormous commitment of
our many supporters. Members, donors, fundraisers, volunteers, staff,
medical advisers and patrons have all given their time and expertise to
promote the cause of dystonia. A big thank you to you all.
Issue 73
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HELPLINE 0845 458 6322
26
33,000
115,549
80,754
FUNDS AT THE START OF THE YEAR
FUNDS AT THE END OF THE YEAR
300,187
466,769
(166,582)
370,769
72,539
187,869
69,875
51,615
66,377
2
110,361
204,187
2,970
4,072
197,145
180,613
16,532
£
General
2010 / 11 Accounts
All of the above results are derived from continuing activities.
There were no other recognised gains or losses other than those stated above.
272
(32,728)
(34,795)
NET INCOMING / (OUTGOING)
RESOURCES FOR THE YEAR,
BEING NET INCOME /(EXPENDITURE)
FOR THE YEAR
-
-
32,728
32,728
284,390
284,390
32,728
21,184
191,974
71,232
-
-
TOTAL RESOURCES EXPENDED
GOVERNANCE COSTS
l
CHARITABLE ACTIVITIES
Raising awareness
l Improving access to treatment
l Providing support and information
l Research
COSTS OF GENERATING
VOLUNTARY INCOME
RESOURCES EXPENDED
249,595
-
-
INVESTMENT INCOME
TOTAL INCOMING RESOURCES
-
-
249,595
-
-
249,595
-
£
Designated
UNRESTRICTED
ACTIVITIES FOR GENERATING FUNDS
l Sales of goods and literature
Voluntary income:
l Donations, grants and subscriptions
Legacies
INCOMING RESOURCES
FROM GENERATED FUNDS
£
RESTRICTED
381,213
615,318
(234,105)
687,887
72,539
504,986
91,059
51,615
258,350
103,962
110,361
453,782
2,970
4,072
446,740
430,208
16,532
£
2011
Statement of Financial Activities for the year ended 31 March 2011
(Incorporating an Income and Expenditure account)
The Dystonia Society
615,318
539,138
76,180
657,769
42,120
515,045
114,852
48,524
290,426
61,243
100,604
733,949
1,788
3,283
728,878
552,961
175,917
£
2010
£
–
25,000
25,000
£
–
25,000
25,000
FIXED ASSETS
Tangible assets
609,988
(19,670)
590,318
615,318
394,339
(38,126)
356,213
381,213
Creditors: amounts falling due within one year
NET CURRENT ASSETS
NET ASSETS
Designated funds
l
381,213
80,754
300,459
272
615,318
115,549
499,769
33,000
2010 / 11 Accounts
In our opinion, the summarised financial statements are consistent with the full financial statements of
The Dystonia Society for the year ended 31 March 2011 and complies with the applicable requirements
of section 427 of the Companies Act 2006, and the regulations made thereunder. We have not considered
the effects of any events between the date on which we signed our report on the full financial statements
23 June 2011 and the date of this statement.
Opinion
Chartered Accountants and Statutory Auditor LONDON
5 September 2011
Chantrey Vellacott DFK LLP
We conducted our work in accordance with Bulletin 2008 / 3 ‘the auditor's statement on the summary financial statement’ issued by the Auditing Practices Board. Our report on
the charity’s full annual financial statements describes the basis of our audit opinion on those financial statements.
Basis of opinion
The trustees are responsible for preparing the summarised annual report in accordance with applicable United Kingdom law. Our responsibility is to report to you our opinion on
the consistency of the summary financial statements with the full annual financial statements and the report of the trustees, and its compliance with the relevant requirements
of section 427 of the Companies Act 2006 and the regulations made thereunder.
Respective responsibilities of the trustees and auditor
We have examined the summarised financial statements of The Dystonia Society for the year ended 31 March 2011 which comprises the summary statement of financial activities
and summary balance sheet. These financial statements have been prepared under the accounting policies set out therein. This report is made solely to the charity’s members, as
a body, in accordance with sections 495 and 496 of the Companies Act 2006. Our audit work has been undertaken so that we might state to the charity’s members those matters
we are required to state to them in an auditor’s report and for no other purpose. To the fullest extent permitted by law, we do not accept or assume responsibility to anyone
other than the charity and the charity’s members as a body, for our audit work, for this report, or for the opinion we have formed.
Independent auditor’s statement to the members of The Dystonia Society
The summarised financial statements have been agreed by our auditors, Chantrey Vellacott DFK LLP, as being consistent with the full financial statements for the year ended
31 March 2011. These were prepared in accordance with the Statement of Recommended Practice ‘Accounting and Reporting by Charities’ 2005 and received an unqualified
audit opinion. These summarised financial statements are not the full statutory financial statements and therefore may not contain sufficient information to enable a full
understanding of the financial affairs of The Dystonia Society. For further information, the full report of the trustees and accounts, and the independent auditor’s report should
be consulted. Copies of these can be obtained from the registered office. The full financial statements were approved by the Board of Trustees on 23 June 2011 and have been
submitted to the Charity Commission and Companies House. The auditor has issued an unqualified report on the full annual financial statements and on the consistency of the
report of the trustees with those financial statements. Their report on the full annual financial statements contained no statement under sections 498(2)(a), 498(2)(b) or 498(3)
of the Companies Act 2006.
Trustees’ statement in respect of The Dystonia Society
TOTAL FUNDS
RESTRICTED FUNDS
TOTAL UNRESTRICTED FUNDS
General funds
l
UNRESTRICTED FUNDS:
Represented by:
466,769
585,063
364,456
Cash invested at bank and in hand
300,187
24,925
Debtors
29,883
CURRENT ASSETS
Investments
31 March 2010
31 March 2011
Balance Sheet as at 31 March 2011
The Dystonia Society